Variant report

Variant	nsv5074
Chromosome Location	chr5:152010691-152055779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:152014610..152016353-chr5:152016707..152018951,3	MCF-7	breast:
2	chr5:152014610..152016353-chr5:152016707..152018951,3	MCF-7	breast:
3	chr5:152038121..152041071-chr5:152041716..152043626,2	MCF-7	breast:
4	chr5:152038121..152041071-chr5:152041716..152043626,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMUR2-4	chr5:152049155-152049282	ucscGeneNc_uc003luw_1
2	lnc-NMUR2-4	chr5:152044414-152044538	ucscGeneNc_uc003luw_1

No data

Extended variants
information (count: 892 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:892 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542359019	chr5:152010697-152010698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150515647	chr5:152010728-152010729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529477541	chr5:152010778-152010779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189169142	chr5:152010820-152010821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545097755	chr5:152010828-152010829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559820313	chr5:152010834-152010835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139497649	chr5:152010835-152010836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192801018	chr5:152010847-152010848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551496590	chr5:152010863-152010864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563715227	chr5:152010906-152010907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574835349	chr5:152010907-152010908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184595063	chr5:152010942-152010943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188558902	chr5:152010972-152010973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534828093	chr5:152010998-152010999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72797251	chr5:152010999-152011000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575272337	chr5:152011008-152011009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150643353	chr5:152011049-152011050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79252439	chr5:152011059-152011060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143305550	chr5:152011137-152011138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538962941	chr5:152011167-152011168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556679576	chr5:152011170-152011171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574919459	chr5:152011171-152011172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138006630	chr5:152011174-152011175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554257440	chr5:152011224-152011225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573865238	chr5:152011241-152011242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541270663	chr5:152011262-152011263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181442080	chr5:152011378-152011379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578181810	chr5:152011396-152011397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545732681	chr5:152011410-152011411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75989266	chr5:152011420-152011421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116369849	chr5:152011440-152011441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549464140	chr5:152011457-152011458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11956531	chr5:152011462-152011463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs367868290	chr5:152011489-152011490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7733725	chr5:152011505-152011506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs144144022	chr5:152011545-152011546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115208442	chr5:152011562-152011563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116742940	chr5:152011563-152011564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550493764	chr5:152011651-152011652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6873744	chr5:152011653-152011654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536245299	chr5:152011696-152011697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146503630	chr5:152011701-152011702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11950024	chr5:152011787-152011788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142764009	chr5:152011805-152011806	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs185931435	chr5:152011813-152011814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs11956651	chr5:152011814-152011815	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs553289533	chr5:152011825-152011826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs115117687	chr5:152011841-152011842	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189076767	chr5:152011842-152011843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112962083	chr5:152011947-152011948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152002600-152013600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:152002600-152014000	Weak transcription	Brain Substantia Nigra	brain
3	chr5:152004200-152014200	Weak transcription	Spleen	Spleen
4	chr5:152005600-152013800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:152005800-152012800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:152006000-152011200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:152006400-152014400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:152008400-152012200	Weak transcription	Right Atrium	heart
9	chr5:152008400-152013400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:152008400-152022800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:152009000-152016800	Enhancers	Fetal Brain Female	brain
12	chr5:152010400-152011800	Enhancers	Aorta	Aorta
13	chr5:152010400-152013600	Enhancers	Fetal Lung	lung
14	chr5:152010600-152011800	Enhancers	Fetal Brain Male	brain
15	chr5:152011000-152012400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:152011200-152012800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:152011400-152011600	Enhancers	Ovary	ovary
18	chr5:152011400-152012600	Enhancers	Fetal Kidney	kidney
19	chr5:152011600-152012200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:152011600-152012800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:152011800-152012000	Enhancers	Brain Hippocampus Middle	brain
22	chr5:152011800-152012200	Flanking Active TSS	Fetal Brain Male	brain
23	chr5:152011800-152021800	Weak transcription	Aorta	Aorta
24	chr5:152012000-152012400	Enhancers	Stomach Smooth Muscle	stomach
25	chr5:152012000-152012800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:152012000-152012800	Enhancers	Right Ventricle	heart
27	chr5:152012000-152013400	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:152012200-152012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:152012200-152012800	Enhancers	Left Ventricle	heart
30	chr5:152012200-152012800	Enhancers	Right Atrium	heart
31	chr5:152012200-152014600	Enhancers	Adipose Nuclei	Adipose
32	chr5:152012200-152014800	Enhancers	Fetal Brain Male	brain
33	chr5:152012400-152012800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:152012400-152013600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr5:152012600-152014000	Weak transcription	Fetal Kidney	kidney
36	chr5:152012800-152013000	Enhancers	Brain Germinal Matrix	brain
37	chr5:152012800-152013600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:152012800-152013800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:152012800-152013800	Weak transcription	Left Ventricle	heart
40	chr5:152012800-152013800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:152012800-152014200	Weak transcription	Right Atrium	heart
42	chr5:152012800-152014400	Weak transcription	Right Ventricle	heart
43	chr5:152012800-152018000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:152013000-152013400	Weak transcription	Brain Germinal Matrix	brain
45	chr5:152013400-152015000	Enhancers	Brain Hippocampus Middle	brain
46	chr5:152013400-152015200	Enhancers	Brain Germinal Matrix	brain
47	chr5:152013400-152015400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:152013600-152014400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:152013600-152014800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:152013600-152015000	Enhancers	Pancreatic Islets	Pancreatic Islet

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